Variant report

Variant	rs562646445
Chromosome Location	chr21:40683880-40683881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr21:40683869-40684721	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr21:40683843-40684644	SK-N-SH	brain:	n/a	n/a
3	REST	chr21:40683818-40686869	H1-neurons	neurons:	n/a	chr21:40685323-40685336
4	SREBP2	chr21:40683625-40684860	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:40682578-40684658	K562	blood:	n/a	n/a
6	GATA3	chr21:40683810-40684366	SH-SY5Y	brain:	n/a	n/a
7	RFX5	chr21:40683572-40684862	SK-N-SH	brain:	n/a	chr21:40684392-40684401
8	NRF1	chr21:40683739-40684681	SK-N-SH	brain:	n/a	n/a
9	GATA1	chr21:40683837-40684607	PBDE	blood:	n/a	n/a
10	MYC	chr21:40683733-40684653	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr21:40672762..40675001-chr21:40682440..40684098,2	K562	blood:
3	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
4	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
5	chr21:40683717..40685708-chr21:40747929..40750593,3	MCF-7	breast:
6	chr21:40645055..40648656-chr21:40680491..40684092,3	K562	blood:
7	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:
8	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
9	chr1:204379398..204382038-chr21:40683560..40686325,2	MCF-7	breast:
10	chr21:40554270..40557456-chr21:40682408..40685088,3	K562	blood:
11	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
12	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
13	chr21:40683731..40685549-chr21:40816150..40817682,2	MCF-7	breast:
14	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
15	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:
16	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
17	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
18	chr21:40683507..40684404-chr21:40721331..40722058,2	MCF-7	breast:
19	chr21:40591760..40593585-chr21:40682186..40684474,2	K562	blood:
20	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:
21	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:

No data

Variant related genes	Relation type
BRWD1-AS1	TF binding region
ENSG00000205581	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	esv3439649	chr21:40683507-40687455	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
4	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
5	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
8	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
9	chr21:40672200-40684000	Weak transcription	Aorta	Aorta
10	chr21:40672400-40684000	Weak transcription	Small Intestine	intestine
11	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:40673600-40684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:40673600-40684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40673600-40684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr21:40675800-40684200	Weak transcription	Pancreas	Pancrea
16	chr21:40675800-40684400	Weak transcription	Gastric	stomach
17	chr21:40675800-40684400	Weak transcription	Spleen	Spleen
18	chr21:40676600-40684000	Weak transcription	Brain Germinal Matrix	brain
19	chr21:40680400-40684000	Weak transcription	Right Ventricle	heart
20	chr21:40681400-40684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:40682000-40684000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:40682200-40684000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:40682400-40684000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr21:40682400-40684000	Strong transcription	HSMM	muscle
25	chr21:40682600-40684000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr21:40682600-40684000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr21:40683000-40684000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr21:40683000-40684000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr21:40683000-40684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:40683200-40684000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:40683200-40684000	Genic enhancers	NHDF-Ad	bronchial
32	chr21:40683400-40684000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:40683400-40684000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:40683400-40684000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr21:40683400-40684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr21:40683400-40684000	Enhancers	Adipose Nuclei	Adipose
37	chr21:40683400-40684000	Enhancers	Brain Angular Gyrus	brain
38	chr21:40683400-40684000	Enhancers	Fetal Brain Male	brain
39	chr21:40683400-40684000	Weak transcription	Fetal Intestine Large	intestine
40	chr21:40683400-40684200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:40683400-40684200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:40683400-40684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:40683400-40684200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr21:40683400-40684200	Weak transcription	Left Ventricle	heart
45	chr21:40683400-40684200	Weak transcription	Ovary	ovary
46	chr21:40683400-40684200	Weak transcription	Psoas Muscle	Psoas
47	chr21:40683400-40684400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:40683400-40684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:40683400-40684400	Weak transcription	Lung	lung
50	chr21:40683400-40684400	Enhancers	Stomach Mucosa	stomach

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